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rs372030650

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs372030650(A;A)
Make rs372030650(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position23539985
GeneNPC1
is asnp
is mentioned by
dbSNPrs372030650
ebirs372030650
HLIrs372030650
Exacrs372030650
Varsomers372030650
Maprs372030650
PheGenIrs372030650
hapmaprs372030650
1000 genomesrs372030650
hgdprs372030650
ensemblrs372030650
gopubmedrs372030650
geneviewrs372030650
scholarrs372030650
googlers372030650
pharmgkbrs372030650
gwascentralrs372030650
openSNPrs372030650
23andMers372030650
23andMe allrs372030650
SNP Nexus

SNPshotrs372030650
SNPdbers372030650
MSV3drs372030650
GWAS Ctlgrs372030650
Max Magnitude0
ClinVar
Risk rs372030650(A;A)
Alt rs372030650(A;A)
Reference rs372030650(T;T)
Significance Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 0
HGVS NC_000018.9:g.21119949T>A
CLNSRC
CLNACC RCV000175270.1,